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Updated: Apr 22, 2026
09:01
Flow Cytometry to Estimate Leukemia Stem Cells in Primary Acute Myeloid Leukemia and in Patient-derived-xenografts, at Diagnosis and Follow Up
Published on: March 26, 2018
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Inherited predisposition to acute myeloid leukemia
1Section of Hematology/Oncology and the Center for Clinical Cancer Genetics, Department of Medicine, and Comprehensive Cancer Center, The University of Chicago, Chicago, IL.
Seminars in Hematology
|October 15, 2014
Summary
Germline testing identifies inherited risks for myeloid malignancies like leukemia. Recognizing these familial syndromes improves genetic counseling and patient care.
Area of Science:
- Hematology
- Genetics
- Oncology
Background:
- Familial predisposition to myeloid malignancies is increasingly recognized.
- Germline testing is crucial for diagnosing inherited cancer syndromes.
- Several specific genetic mutations are linked to familial myeloid cancers.
Purpose of the Study:
- To review current germline testing options for familial myeloid malignancies.
- To highlight the importance of recognizing inherited syndromes.
- To emphasize the role of genetic counseling and management.
Main Methods:
- Review of existing Clinical Laboratory Improvement Amendments-approved genetic tests.
- Discussion of known gene mutations associated with familial myeloid malignancies.
- Synthesis of current knowledge on inherited bone marrow failure syndromes.
Main Results:
- Approved genetic tests are available for RUNX1, GATA2, and CEBPA mutations.
- Inherited bone marrow failure syndromes, like dyskeratosis congenita, are included.
- New predisposition alleles are expected with further research.
Conclusions:
- Awareness of familial myeloid malignancy syndromes is essential.
- Germline testing facilitates accurate diagnosis and risk assessment.
- Proper genetic counseling and clinical management are critical for affected families.
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